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MEACHS
MCID: MCH011
MIFTS: 29

Meacham Syndrome (MEACHS)

Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Meacham Syndrome

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MalaCards integrated aliases for Meacham Syndrome:

Name: Meacham Syndrome 57 59 75 29 13 6 40 73
Rhabdomyomatous Dysplasia-Cardiopathy-Genital Anomalies Syndrome 59
Meacham Winn Culler Syndrome 73
Meacham-Winn-Culler Syndrome 59
Meachs 75

Characteristics:

Orphanet epidemiological data:

59
meacham syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Reproductive diseases Endocrine diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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Summaries for Meacham Syndrome

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UniProtKB/Swiss-Prot : 75 Meacham syndrome: Rare sporadically occurring multiple malformation syndrome characterized by male pseudohermaphroditism with abnormal internal female genitalia comprising a uterus and double or septate vagina, complex congenital heart defect and diaphragmatic abnormalities.

MalaCards based summary : Meacham Syndrome, also known as rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome, is related to meacham winn culler syndrome and diaphragmatic hernia, congenital. An important gene associated with Meacham Syndrome is WT1 (Wilms Tumor 1). Affiliated tissues include heart, uterus and lung, and related phenotypes are patent ductus arteriosus and cryptorchidism

Description from OMIM: 608978
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Related Diseases for Meacham Syndrome

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Diseases related to Meacham Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 meacham winn culler syndrome 11.1
2 diaphragmatic hernia, congenital 10.1
3 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.8 WT1 WT1-AS
4 diffuse mesangial sclerosis 9.8 WT1 WT1-AS
5 wilson-turner x-linked mental retardation syndrome 9.8 WT1 WT1-AS
6 frasier syndrome 9.8 WT1 WT1-AS
7 wilms tumor 1 9.8 WT1 WT1-AS
8 leukemia, acute myeloid 9.7 WT1 WT1-AS

Graphical network of the top 20 diseases related to Meacham Syndrome:



Diseases related to Meacham Syndrome
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Symptoms & Phenotypes for Meacham Syndrome

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Clinical features from OMIM:

608978

Human phenotypes related to Meacham Syndrome:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
2 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
3 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000085
4 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
5 coarctation of aorta 59 32 occasional (7.5%) Occasional (29-5%) HP:0001680
6 hypoplastic left heart 59 32 frequent (33%) Frequent (79-30%) HP:0004383
7 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
8 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
9 abnormality of the spleen 59 32 occasional (7.5%) Occasional (29-5%) HP:0001743
10 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
11 ambiguous genitalia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000062
12 aplasia/hypoplasia of the lungs 59 32 hallmark (90%) Very frequent (99-80%) HP:0006703
13 situs inversus totalis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001696
14 congenital diaphragmatic hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000776
15 transposition of the great arteries 59 32 occasional (7.5%) Occasional (29-5%) HP:0001669
16 aortic valve stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001650
17 anomalous pulmonary venous return 59 32 occasional (7.5%) Occasional (29-5%) HP:0010772
18 vaginal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000148
19 crossed fused renal ectopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004736
20 hydrometrocolpos 59 32 frequent (33%) Frequent (79-30%) HP:0030010
21 abnormality of the fallopian tube 59 32 hallmark (90%) Very frequent (99-80%) HP:0011027
22 pulmonary sequestration 59 32 frequent (33%) Frequent (79-30%) HP:0100632
23 abnormality of the vagina 59 Very frequent (99-80%)
24 abnormal lung lobation 59 Frequent (79-30%)
25 conotruncal defect 59 Occasional (29-5%)
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Drugs & Therapeutics for Meacham Syndrome

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Search Clinical Trials , NIH Clinical Center for Meacham Syndrome

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Genetic Tests for Meacham Syndrome

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Genetic tests related to Meacham Syndrome:

# Genetic test Affiliating Genes
1 Meacham Syndrome 29 WT1
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Anatomical Context for Meacham Syndrome

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MalaCards organs/tissues related to Meacham Syndrome:

41
Heart, Uterus, Lung, Kidney, Spleen, Myeloid
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Publications for Meacham Syndrome

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Articles related to Meacham Syndrome:

# Title Authors Year
1
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. ( 17853480 )
2007
2
Double vagina with sex reversal, congenital diaphragmatic hernia, pulmonary and cardiac malformations--another case of Meacham syndrome. ( 11822701 )
2002
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Variations for Meacham Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Meacham Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 WT1 p.Arg366Cys VAR_007745
2 WT1 p.Arg394Trp VAR_007750

ClinVar genetic disease variations for Meacham Syndrome:

6 (show top 50) (show all 180)
# Gene Variation Type Significance SNP ID Assembly Location
1 WT1 NM_024426.4(WT1): c.1384C> T (p.Arg462Trp) single nucleotide variant Pathogenic rs121907900 GRCh37 Chromosome 11, 32413566: 32413566
2 WT1 NM_024426.4(WT1): c.1384C> T (p.Arg462Trp) single nucleotide variant Pathogenic rs121907900 GRCh38 Chromosome 11, 32392020: 32392020
3 WT1 NM_024426.4(WT1): c.1300C> T (p.Arg434Cys) single nucleotide variant Pathogenic rs121907910 GRCh37 Chromosome 11, 32414251: 32414251
4 WT1 NM_024426.4(WT1): c.1300C> T (p.Arg434Cys) single nucleotide variant Pathogenic rs121907910 GRCh38 Chromosome 11, 32392705: 32392705
5 WT1 NM_024426.4(WT1): c.108G> C (p.Pro36=) single nucleotide variant Conflicting interpretations of pathogenicity rs555140661 GRCh37 Chromosome 11, 32456784: 32456784
6 WT1 NM_024426.4(WT1): c.108G> C (p.Pro36=) single nucleotide variant Conflicting interpretations of pathogenicity rs555140661 GRCh38 Chromosome 11, 32435238: 32435238
7 WT1 NM_024426.4(WT1): c.330C> T (p.Pro110=) single nucleotide variant Benign rs1799925 GRCh37 Chromosome 11, 32456562: 32456562
8 WT1 NM_024426.4(WT1): c.330C> T (p.Pro110=) single nucleotide variant Benign rs1799925 GRCh38 Chromosome 11, 32435016: 32435016
9 WT1 NM_024426.4(WT1): c.1107A> G (p.Arg369=) single nucleotide variant Benign rs16754 GRCh37 Chromosome 11, 32417945: 32417945
10 WT1 NM_024426.4(WT1): c.1107A> G (p.Arg369=) single nucleotide variant Benign rs16754 GRCh38 Chromosome 11, 32396399: 32396399
11 WT1 NM_024426.4(WT1): c.1099-9T> C single nucleotide variant Benign/Likely benign rs5030274 GRCh38 Chromosome 11, 32396416: 32396416
12 WT1 NM_024426.4(WT1): c.1099-9T> C single nucleotide variant Benign/Likely benign rs5030274 GRCh37 Chromosome 11, 32417962: 32417962
13 WT1 NM_024426.4(WT1): c.360C> T (p.Gly120=) single nucleotide variant Conflicting interpretations of pathogenicity rs776209354 GRCh38 Chromosome 11, 32434986: 32434986
14 WT1 NM_024426.4(WT1): c.360C> T (p.Gly120=) single nucleotide variant Conflicting interpretations of pathogenicity rs776209354 GRCh37 Chromosome 11, 32456532: 32456532
15 WT1 NM_024426.4(WT1): c.294C> A (p.Gly98=) single nucleotide variant Benign/Likely benign rs547333427 GRCh38 Chromosome 11, 32435052: 32435052
16 WT1 NM_024426.4(WT1): c.294C> A (p.Gly98=) single nucleotide variant Benign/Likely benign rs547333427 GRCh37 Chromosome 11, 32456598: 32456598
17 WT1 NM_024426.4(WT1): c.201G> T (p.Gln67His) single nucleotide variant Benign/Likely benign rs5030135 GRCh38 Chromosome 11, 32435145: 32435145
18 WT1 NM_024426.4(WT1): c.201G> T (p.Gln67His) single nucleotide variant Benign/Likely benign rs5030135 GRCh37 Chromosome 11, 32456691: 32456691
19 WT1 NM_024426.4(WT1): c.166C> A (p.Arg56=) single nucleotide variant Benign/Likely benign rs2234581 GRCh38 Chromosome 11, 32435180: 32435180
20 WT1 NM_024426.4(WT1): c.166C> A (p.Arg56=) single nucleotide variant Benign/Likely benign rs2234581 GRCh37 Chromosome 11, 32456726: 32456726
21 WT1 NM_024426.4(WT1): c.68G> A (p.Gly23Glu) single nucleotide variant Uncertain significance rs751641518 GRCh38 Chromosome 11, 32435278: 32435278
22 WT1 NM_024426.4(WT1): c.68G> A (p.Gly23Glu) single nucleotide variant Uncertain significance rs751641518 GRCh37 Chromosome 11, 32456824: 32456824
23 WT1 NM_024426.5(WT1): c.1074A> G (p.Gln358=) single nucleotide variant Benign/Likely benign rs2234590 GRCh37 Chromosome 11, 32421533: 32421533
24 WT1 NM_024426.5(WT1): c.1074A> G (p.Gln358=) single nucleotide variant Benign/Likely benign rs2234590 GRCh38 Chromosome 11, 32399987: 32399987
25 WT1 NM_024426.4(WT1): c.681C> T (p.Ser227=) single nucleotide variant Benign/Likely benign rs9332974 GRCh38 Chromosome 11, 32428585: 32428585
26 WT1 NM_024426.4(WT1): c.681C> T (p.Ser227=) single nucleotide variant Benign/Likely benign rs9332974 GRCh37 Chromosome 11, 32450131: 32450131
27 WT1 NM_024426.4(WT1): c.594C> T (p.Asn198=) single nucleotide variant Benign/Likely benign rs2234583 GRCh37 Chromosome 11, 32456298: 32456298
28 WT1 NM_024426.4(WT1): c.594C> T (p.Asn198=) single nucleotide variant Benign/Likely benign rs2234583 GRCh38 Chromosome 11, 32434752: 32434752
29 WT1 NM_024426.4(WT1): c.498C> A (p.Gly166=) single nucleotide variant Benign/Likely benign rs536728682 GRCh38 Chromosome 11, 32434848: 32434848
30 WT1 NM_024426.4(WT1): c.498C> A (p.Gly166=) single nucleotide variant Benign/Likely benign rs536728682 GRCh37 Chromosome 11, 32456394: 32456394
31 WT1 NM_024426.4(WT1): c.366C> G (p.Pro122=) single nucleotide variant Conflicting interpretations of pathogenicity rs771681406 GRCh38 Chromosome 11, 32434980: 32434980
32 WT1 NM_024426.4(WT1): c.366C> G (p.Pro122=) single nucleotide variant Conflicting interpretations of pathogenicity rs771681406 GRCh37 Chromosome 11, 32456526: 32456526
33 WT1 NM_024426.4(WT1): c.198G> T (p.Pro66=) single nucleotide variant Benign rs2234582 GRCh37 Chromosome 11, 32456694: 32456694
34 WT1 NM_024426.4(WT1): c.198G> T (p.Pro66=) single nucleotide variant Benign rs2234582 GRCh38 Chromosome 11, 32435148: 32435148
35 WT1 NM_024426.4(WT1): c.*1132A> T single nucleotide variant Likely benign rs5030328 GRCh38 Chromosome 11, 32387926: 32387926
36 WT1 NM_024426.4(WT1): c.*1132A> T single nucleotide variant Likely benign rs5030328 GRCh37 Chromosome 11, 32409472: 32409472
37 WT1 NM_024426.4(WT1): c.*1098C> T single nucleotide variant Likely benign rs5030327 GRCh38 Chromosome 11, 32387960: 32387960
38 WT1 NM_024426.4(WT1): c.*1098C> T single nucleotide variant Likely benign rs5030327 GRCh37 Chromosome 11, 32409506: 32409506
39 WT1 NM_024426.4(WT1): c.*1058G> T single nucleotide variant Uncertain significance rs886048211 GRCh37 Chromosome 11, 32409546: 32409546
40 WT1 NM_024426.4(WT1): c.*1058G> T single nucleotide variant Uncertain significance rs886048211 GRCh38 Chromosome 11, 32388000: 32388000
41 WT1 NM_024426.4(WT1): c.*1053_*1054dupGT duplication Uncertain significance rs878917290 GRCh37 Chromosome 11, 32409550: 32409551
42 WT1 NM_024426.4(WT1): c.*1053_*1054dupGT duplication Uncertain significance rs878917290 GRCh38 Chromosome 11, 32388004: 32388005
43 WT1 NM_024426.4(WT1): c.*897G> C single nucleotide variant Likely benign rs5030324 GRCh37 Chromosome 11, 32409707: 32409707
44 WT1 NM_024426.4(WT1): c.*897G> C single nucleotide variant Likely benign rs5030324 GRCh38 Chromosome 11, 32388161: 32388161
45 WT1 NM_024426.4(WT1): c.*864T> A single nucleotide variant Likely benign rs5030323 GRCh37 Chromosome 11, 32409740: 32409740
46 WT1 NM_024426.4(WT1): c.*864T> A single nucleotide variant Likely benign rs5030323 GRCh38 Chromosome 11, 32388194: 32388194
47 WT1 NM_024426.4(WT1): c.*835A> G single nucleotide variant Likely benign rs5030322 GRCh37 Chromosome 11, 32409769: 32409769
48 WT1 NM_024426.4(WT1): c.*835A> G single nucleotide variant Likely benign rs5030322 GRCh38 Chromosome 11, 32388223: 32388223
49 WT1 NM_024426.4(WT1): c.*685G> T single nucleotide variant Uncertain significance rs886048218 GRCh37 Chromosome 11, 32409919: 32409919
50 WT1 NM_024426.4(WT1): c.*685G> T single nucleotide variant Uncertain significance rs886048218 GRCh38 Chromosome 11, 32388373: 32388373
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Expression for Meacham Syndrome

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Search GEO for disease gene expression data for Meacham Syndrome.
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Pathways for Meacham Syndrome

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GO Terms for Meacham Syndrome

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Sources for Meacham Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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